WWS, also known as Walker Warburg Syndrome, is a genetic condition passed on to children of parents with two recessive genes. The overall incidence is unknown but in one survey in Northern Italy, it was 1.2 in 100,000 births.

Both parents must have the recessive gene for children to be born with the condition. As is the case with many genetic conditions, parents with recessive genes don’t always birth children with an active form of Walker Warburg Syndrome.

Who is at Risk?

If mom and dad are carriers of the recessive gene responsible for Warner Warburg Syndrome, children are at increased risk of being born with the condition. The condition is autosomal recessive, which means that 25-percent of children will have no altered form of the genes responsible for the condition. Twenty-five percent of children are born with an active form of the disease and the remaining 50-percent are carriers.

Symptoms

Symptoms of Walker Warburg Syndrome may include:

• Muscle weakness
• Mental retardation
• Seizures
• Cataracts
• Anterior chamber malformation
• Microcornea
• Microphthalmia
• Detachment of the retina
• Retinal dysplasia
• Retinal hypoplasia
• Optic nerve atrophy
• Macula
• Coloboma
• Glaucoma
• Buphthalmos
• Lissencephaly
• Hydrocephalus
• Vermal cerebral hyperplasia
• General cerebral hyperplasia
• Brainstem defects
• Abnormalities of the male genitalia

Diagnosis

Diagnosis of Walker Warburg Syndrome is based on case studies. When patients and case studies were examined, doctors pulled out the main symptoms present in 100-percent of the cases. It is these symptoms that are used today for definitive diagnosis. Patients with Walker Warburg Syndrome will present with:

• Smoothness of the brain
• Malformed cerebellar
• Malformed retina
• Congenital muscular dystrophy

Due to the severity and early-onset of the disease and symptoms, many diagnostic procedures may be completed in the hospital soon after birth.

Treatment

There is no known treatment for Walker Warburg Syndrome. Doctors may work with parents to treat symptoms of the disorder or to help parents provide supportive care for their children. Patients with Walker Warburg syndrome may have an aggressive form of the disease and require hospitalization from birth. In these cases, death typically occurs within a few months of life.

Supportive care often includes a gastric feeding tube, seizure medications, shunting to treat hydrocephalus and physical therapy.

Life Expectancy

Walker Warburg Syndrome is a severe condition that will reduce life expectancy. Typically, infants born with the syndrome will not live past the age of three and in some cases, death will occur within the first few months. Parents of children with Walker Warburg Syndrome may benefit from supportive therapy and guidance to better deal with the progressive condition.